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congenital myasthenic syndrome 12
Summary
- Synonym
-
- CMS12
- congenital myasthenia 12 with tubular aggregates
- Definition
- A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
- Super Class
- autosomal recessive disease congenital myasthenic syndrome
External Links
- Disease Ontology
- DOID:0110660
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q06210 | Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003198 | Myopathy |
| HP:0010628 | Facial palsy |
| HP:0001763 | Pes planus |
| HP:0003473 | Fatigable weakness |
| HP:0001284 | Areflexia |
| HP:0003388 | Easy fatigability |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0002460 | Distal muscle weakness |
| HP:0000508 | Ptosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
| 199857 | ALG14 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
| 2673 | GFPT1 | glutamine--fructose-6-phosphate transaminase 1 |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase |
